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Endocrine, Metabolic & Immune Disorders - Drug Targets

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ISSN (Online): 2212-3873

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Review Article

Occurrence of Inborn Errors of Metabolism in Newborns, Diagnosis and Prophylaxis

Author(s): Alok Bharadwaj*, Nitin Wahi and Aditya Saxena

Volume 21, Issue 4, 2021

Published on: 23 December, 2020

Page: [592 - 616] Pages: 25

DOI: 10.2174/1871530321666201223110918

Price: $65

Abstract

Inborn errors of metabolism (IEM) are a heterogeneous group of rare genetic disorders that are generally transmitted as autosomal or X-linked recessive disorders. These defects arise due to mutations associated with specific gene(s), especially the ones associated with key metabolic enzymes. These enzymes or their product(s) are involved in various metabolic pathways, leading to the accumulation of intermediary metabolite(s), reflecting their toxic effects upon mutations. The diagnosis of these metabolic disorders is based on the biochemical analysis of the clinical manifestations produced and their molecular mechanism. Therefore, it is imperative to devise diagnostic tests with high sensitivity and specificity for early detection of IEM. Recent advances in biochemical and polymerase chain reaction-based genetic analysis along with pedigree and prenatal diagnosis can be life-saving in nature. The latest development in exome sequencing for rapid diagnosis and enzyme replacement therapy would facilitate the successful treatment of these metabolic disorders in the future. However, the longterm clinical implications of these genetic manipulations is still a matter of debate among intellectuals and requires further research.

Keywords: Diagnosis, clinical variations, molecular medicine, inborn error of metabolism, prophylaxis, newborns.

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